JAK2 c.3060-10160G>A

Variant ID: 9-5112844-G-A

NM_004972.3(JAK2):c.3060-10160G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs10815158
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



PIAS2-mediated blockade of IFN-β signaling: a basis for sporadic Parkinson disease dementia.

Molecular Psychiatry
Magalhaes, Joana J; Tresse, Emilie E; Ejlerskov, Patrick P; Hu, Erling E; Liu, Yawei Y; Marin, Andrea A; Montalant, Alexia A; Satriano, Letizia L; Rundsten, Carsten Friis CF; Carlsen, Eva Maria Meier EMM; Rydbirk, Rasmus R; Sharifi-Zarchi, Ali A; Andersen, Jesper Bøje JB; Aznar, Susana S; Brudek, Tomasz T; Khodosevich, Konstantin K; Prinz, Marco M; Perrier, Jean-François Marie JM; Sharma, Manu M; Gasser, Thomas T; Issazadeh-Navikas, Shohreh S
Publication Date: 2021-07-08

Variant appearance in text: rs10815158
PubMed Link: 34234281
Variant Present in the following documents:
  • Main text
  • 41380_2021_Article_1207.pdf
View BVdb publication page



PIAS2-mediated blockade of IFN-β signaling: a basis for sporadic Parkinson disease dementia.

Molecular Psychiatry
Magalhaes, Joana J; Tresse, Emilie E; Ejlerskov, Patrick P; Hu, Erling E; Liu, Yawei Y; Marin, Andrea A; Montalant, Alexia A; Satriano, Letizia L; Rundsten, Carsten Friis CF; Carlsen, Eva Maria Meier EMM; Rydbirk, Rasmus R; Sharifi-Zarchi, Ali A; Andersen, Jesper Bøje JB; Aznar, Susana S; Brudek, Tomasz T; Khodosevich, Konstantin K; Prinz, Marco M; Perrier, Jean-François Marie JM; Sharma, Manu M; Gasser, Thomas T; Issazadeh-Navikas, Shohreh S
Publication Date: 2021-10

Variant appearance in text: rs10815158
PubMed Link: 34234281
Variant Present in the following documents:
  • Main text
  • 41380_2021_Article_1207.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: JAK2: 3060-10160G>A; rs10815158
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs10815158
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page